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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Epm2a
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
MGI:1341085
35 phenotypes from 1 allele in 2 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Epm2atm1Kzy/Epm2atm1Kzy
involves: 129P2/OlaHsd
Lafora bodies J:181559
Epm2atm1Kzy/Epm2atm1Kzy
involves: 129P2/OlaHsd * C57BL/6J
abnormal brain wave pattern J:76688
abnormal enzyme/coenzyme level J:173769
abnormal heart morphology J:173769
abnormal passive avoidance behavior J:76688
ataxia J:76688
axon degeneration J:76688
decreased grip strength J:76688
hepatic steatosis J:173769
hippocampal neuron degeneration J:76688
hypoglycemia J:173769
impaired balance J:76688
impaired coordination J:76688
improved glucose tolerance J:173769
increased body fat mass J:173769
increased body weight J:173769
increased cardiac muscle cell glucose uptake J:173769
increased cardiac muscle glycogen level J:173769
increased circulating cholesterol level J:173769
increased circulating free fatty acids level J:173769
increased circulating ketone body level J:173769
increased circulating triglyceride level J:173769
increased energy expenditure J:173769
increased fluid intake J:173769
increased insulin sensitivity J:173769
increased liver cholesterol level J:173769
increased liver triglyceride level J:173769
increased neuron apoptosis J:76688
increased oxygen consumption J:173769
increased respiratory quotient J:173769
increased startle reflex J:76688
Lafora bodies J:76688, J:173769
muscle weakness J:76688
myoclonus J:76688
polyphagia J:173769
Purkinje cell degeneration J:76688

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory